Although Nancy Wexler’s efforts were largely responsible for creating a genetic test to locate the Huntington’s gene, she refused to take the test herself saying “I will meet the devil at the doorstep”.
At a recent interview following the publication of her memoir, Wexler explained that her mother, father, and three uncles had the HD gene. If one parent has HD, then each child has a fifty percent chance of getting the disease. The long road that led to finding the HD gene ended in a remote area of Venezuela.
HD affects approximately 41,000 people in the United States. Symptoms begin slowly and eventually take control by way of continuous involuntary movement.
Therefore, discovering Huntington’s gene would have been too threatening.
Wexler was already fully immersed in many aspects of the disease. The test was initially described in a paper published in 1872 by an American doctor, George Huntington PH.D. The symptoms are constant involuntary movement. There is neither a treatment nor a cure.
Wexler’s first encounter with HD occurred when she was in Europe studying on a Fullbright fellowship. Her Mother was exhibiting HD symptoms and their father, Milton, called the girls home. After telling them that their mother had HD, he also gave them advice they will always remember, “do not waste a life.”
Wexler continued her ambitious tasks for which she received many awards. Her work took her to Venezuela where the teams focused on three towns around Lake Maracaibo. The researchers were able to trace the disease to a woman named Maria Conception who lived in that area early in the nineteenth century.
Maria apparently had the disease and passed it on to generations of descendants. Three years later the researchers located a marker that is present only when a person has HD yet this was not the actual gene they had been seeking.
In 2019 the subject of testing resurfaced with the announcement of an experimental drug to treat HD. However, Wexler did not qualify as a participant because a pre-diagnosis was a prerequisite.
That motivated Wexler to find out if she had HD then join the study. A neurologist confirmed that she did have HD but the trial was discontinued due to severe side effects.
Wexler remained active in HD research and married in her later years to an executive-vice-chair of New York Presbyterian Hospital.
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Rose Duesterwald September 10, 2026
